Cited by 168Genetic Neurodegenerative DiseasesDementia and Cognitive Impairment ResearchHealth Systems, Economic Evaluations, Quality of Life

The DOI matches its Crossref record; 283 of the 290 references it cites were found in a registry or an index.

A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases

Open access

Paulsen, Jane S., Nance, Martha, Kim, Ji-In, Carlozzi, Noelle E., Panegyres, Peter K., Erwin, Cheryl, Goh, Anita, McCusker, Elizabeth, Williams, Janet K.·2013·Progress in Neurobiology

DOI 10.1016/j.pneurobio.2013.08.003PMC PMC3833259

Open this paper in CoChat — free account

Abstract

The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerative diseases. In this review, we discuss health-related quality of life (HRQOL) measurement in neurodegenerative diseases and the importance of these "patient reported outcomes" for all clinical research. Next, we address HRQOL following early identification or predictive genetic testing in some neurodegenerative diseases: Huntington disease, Alzheimer's disease, Parkinson's disease, Dementia with Lewy bodies, frontotemporal dementia, amyotrophic lateral sclerosis, prion diseases, hereditary ataxias, Dentatorubral-pallidoluysian atrophy and Wilson's disease. After a brief report of available direct-to-consumer genetic tests, we address the juxtaposition of earlier disease identification with assumed reluctance toward predictive genetic testing. Forty-one studies examining health-related outcomes following predictive genetic testing for neurodegenerative disease suggested that (a) extreme or catastrophic outcomes are rare; (b) consequences commonly include transiently increased anxiety and/or depression; (c) most participants report no regret; (d) many persons report extensive benefits to receiving genetic information; and (e) stigmatization and discrimination for genetic diseases are poorly understood and policy and laws are needed. Caution is appropriate for earlier identification of neurodegenerative diseases but findings suggest further progress is safe, feasible and likely to advance clinical care.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1016/j.pneurobio.2013.08.003

Cites

283 of 283 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Items 201–283 of 283

Quality of life, anxiety and depression in ALS patients and their next of kin
Ozanne, A., Strang, S., & Persson, L. (2010) · Journal of Clinical Nursing · doi:10.1111/j.1365-2702.2010.03509.x · Cited by 52
To test or not to test: Interest in genetic testing for Alzheimer's disease among middle-aged adults
Cutler, S. J., & Hodgson, L. G. (2003) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/153331750301800106 · Cited by 51
Predictive genetic testing of children for adult-onset diseases and psychological harm
Malpas, P. J. (2008) · Journal of Medical Ethics · doi:10.1136/jme.2006.019802 · Cited by 51
‘YOU DON'T MAKE GENETIC TEST DECISIONS FROM ONE DAY TO THE NEXT’– USING TIME TO PRESERVE MORAL SPACE
Scully, J. L., Porz, R. C., & Rehmann‐Sutter, C. (2007) · Bioethics · doi:10.1111/j.1467-8519.2007.00546.x · Cited by 50
Problems assessing uptake of Huntington disease predictive testing and a proposed solution
Tassicker, R. J., Teltscher, B., Trembath, M. K., Collins, V., Sheffield, L. J., Chiu, E., Gurrin, L. C., & Delatycki, M. B. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.142 · Cited by 50
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers
Farrer, L. A., Bowcock, A. M., Hebert, J. M., Bonné, B., Sternlieb, I., Giagheddu, M., George‐Hyslop, P. S., Frydman, M., Lössner, J., Demelia, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.7.992 · Cited by 50
Comparison of leptin protein levels in Prader-Willi syndrome and control individuals
Butler, M. G., Moore, J., Morawiecki, A., & Nicolson, M. A. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980106)75:1 · Cited by 50
Genetics and dementia: Risk factors, diagnosis, and management
Hsiung, G. R., & Sadovnick, A. D. (2007) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2007.07.010 · Cited by 50
Comparing test‐specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease
Cassidy, M. R., Roberts, J. S., Bird, T. D., Steinbart, E. J., Cupples, L. A., Chen, C. A., Linnenbringer, E. L., & Green, R. C. (2008) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2008.04.007 · Cited by 48
Prescribing activities that engage passive residents. An innovative method.
Kolanowski, A. M., & Buettner, L. (2008) · Journal of Gerontological Nursing · doi:10.3928/00989134-20080101-08 · Cited by 47
Enhancing measurement in health outcomes research supported by Agencies within the US Department of Health and Human Services
Reeve, B. B., Burke, L. B., Chiang, Y.-P., Clauser, S. B., Colpe, L. J., Elias, J. W., Fleishman, J. A., Hohmann, A. A., Johnson‐Taylor, W. L., Lawrence, W., et al. (2007) · Quality of Life Research · doi:10.1007/s11136-007-9190-8 · Cited by 46
Diffusion Tensor Imaging in Preclinical Huntington’s Disease
Magnotta, V. A., Kim, J., Koscik, T. R., Beglinger, L. J., Espinso, D., Langbehn, D. R., Nopoulos, P., & Paulsen, J. S. (2008) · Brain Imaging and Behavior · doi:10.1007/s11682-008-9051-2 · Cited by 46
Self-citation
Genetic Testing in Adoption
(2000) · The American Journal of Human Genetics · doi:10.1086/302832 · Cited by 46
Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population
Tan, E., Lee, J., Hunter, C., Shinawi, L., Fook-Chong, S. M. C., & Jankovic, J. J. (2006) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2006.10.016 · Cited by 45
Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?
Howard, H. C., Avard, D. M., & Borry, P. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.94 · Cited by 43
Potentially traumatic events at different points in the life span and mental health: Findings from SHARE-Israel.
Shrira, A., Shmotkin, D., & Litwin, H. (2012) · American Journal of Orthopsychiatry · doi:10.1111/j.1939-0025.2012.01149.x · Cited by 42
Mental health and quality of life after genetic testing for Huntington disease: A long‐term effect study in Germany
Licklederer, C., Wolff, G., & Barth, J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32423 · Cited by 42
Access to health insurance: Experiences and attitudes of those with genetic versus non‐genetic medical conditions
KASS, N. E., Medley, A. M., Natowicz, M. R., Hull, S. C., Faden, R., Plantinga, L., & Gostin, L. O. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31576 · Cited by 42
The Human Subjects Trade: Ethical and Legal Issues Surrounding Recruitment Incentives
Lemmens, T., & Miller, P. B. (2003) · Journal of Law, Medicine & Ethics · doi:10.1111/j.1748-720x.2003.tb00103.x · Cited by 41
The ethics of disclosing genetic diagnosis for Alzheimer's disease: do we need a new paradigm?
Arribas‐Ayllon, M. (2011) · British Medical Bulletin · doi:10.1093/bmb/ldr023 · Cited by 41
Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias
Molinuevo, J. L., Pintor, L., Peri, J. M., Lleó, A., Oliva, R., Marcos, T., & Blesa, R. (2005) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/153331750502000408 · Cited by 40
Insurance, Employment, and Psychosocial Consequences of A Diagnosis of Hereditary Hemochromatosis in Subjects Without End Organ Damage
Shaheen, N. J., Lawrence, L. B., Bacon, B. R., Barton, J. C., Barton, N. H., Galanko, J. A., Martin, C. F., Burnett, C. K., & Sandler, R. S. (2003) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2003.07405.x · Cited by 40
Prevalence of Major Depression One Year after Predictive Testing for Huntington's Disease
Codori, A., Slavney, P. R., Rosenblatt, A., & Brandt, J. (2004) · Genetic Testing · doi:10.1089/gte.2004.8.114 · Cited by 39
Predictive and pre‐natal testing for Huntington Disease in Australia: results and challenges encountered during a 10‐year period (1994–2003)
Tassicker, R., Marshall, P., Liebeck, T., Keville, M., Singaram, B., & Richards, F. (2006) · Clinical Genetics · doi:10.1111/j.1399-0004.2006.00701.x · Cited by 39
Environmental Enrichment Reduces Neuronal Intranuclear Inclusion Load But Has No Effect on Messenger RNA Expression in a Mouse Model of Huntington Disease
Benn, C., Luthi‐Carter, R., Kuhn, A., Sadri‐Vakili, G., Blankson, K. L., Dalai, S. C., Goldstein, D. R., Spires‐Jones, T. L., Pritchard, J. I., Olson, J. M., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181ea167f · Cited by 37
Legal update: living with the Genetic Information Nondiscrimination Act
Erwin, C. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31818ca4e7 · Cited by 34
Self-citation
Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation.
Lannfelt, L., Axelman, K., Lilius, L., & Basun, H. (1995) · Europe PMC (PubMed Central) · Cited by 33
Predictive testing for Huntington's disease: relationship with partners after testing
Decruyenaere, M., Evers‐Kiebooms, G., Cloostermans, T., Boogaerts, A., Demyttenaere, K., Dom, R., & Fryns, J. (2003) · Clinical Genetics · doi:10.1111/j..2004.00168.x · Cited by 33
Relationship of 2D:4D finger ratio with androgen receptor CAG and GGN repeat polymorphism
Zhang, C., Dang, J., Pei, L.-G., Guo, M., Zhu, H., Qu, L., Jia, F., Lu, H., & Huo, Z. (2013) · American Journal of Human Biology · doi:10.1002/ajhb.22347 · Cited by 33
Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia
Eugster, E. A., Berry, S. A., & Hirsch, B. A. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970627)70:4 · Cited by 33
Estimating and disclosing the risk of developing Alzheimer‘s disease: challenges, controversies and future directions
Roberts, J. S., & Tersegno, S. M. (2010) · Future Neurology · doi:10.2217/fnl.10.31 · Cited by 32
Role of the Disease in the Psychological Impact of Pre‐Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent
Paneque, M., Lemos, C., Sousa, A., Velázquez‐Pérez, L., Fleming, M., & Sequeiros, J. (2009) · Journal of Genetic Counseling · doi:10.1007/s10897-009-9240-1 · Cited by 32
Perceived stress in prodromal Huntington disease
Downing, N. R., Smith, M. M., Beglinger, L. J., Mills, J. A., Duff, K., Rowe, K. C., Epping, E. A., Paulsen, J. S., & the PREDICT-HD Investigators of the (2011) · Psychology and Health · doi:10.1080/08870446.2010.529141 · Cited by 31
Self-citation
Gender Differences in Attitudes Among Those at Risk for Huntington's Disease
Taylor, S. D. (2005) · Genetic Testing · doi:10.1089/gte.2005.9.152 · Cited by 31
Apolipoprotein E genotyping in Alzheimer's disease. National Institute on Aging/Alzheimer's Association Working Group.
(1996) · PubMed · Cited by 31
Presymptomatic tests in Huntington's disease and dominant ataxias
Cannella, M., Simonelli, M., D'Alessio, C., Pierelli, F., Ruggieri, S. A., & Squitieri, F. (2001) · Neurological Sciences · doi:10.1007/s100720170044 · Cited by 30
A Decade of Genetic Counseling in Frontotemporal Dementia Affected Families: Few Counseling Requests and much Familial Opposition to Testing
Riedijk, S. R., Niermeijer, M. F., Dooijes, D., & Tibben, A. (2009) · Journal of Genetic Counseling · doi:10.1007/s10897-009-9222-3 · Cited by 29
Perception, Experience, and Response to Genetic Discrimination in Huntington's Disease: The Australian Results of the International RESPOND-HD Study
Goh, A., Chiu, E. Y.-K., Yastrubetskaya, O., Erwin, C. J., Williams, J. K., Juhl, A. R., & Paulsen, J. S. (2013) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2012.0288 · Cited by 27
Self-citation
Health-related quality of life in Huntington’s disease patients: a comparison of proxy assessment and patient self-rating using the disease-specific Huntington’s disease health-related quality of life questionnaire (HDQoL)
Hocaoğlu, M., Gaffan, E. A., & Ho, A. K. (2012) · Journal of Neurology · doi:10.1007/s00415-011-6405-2 · Cited by 27
Genetic testing in Huntington's disease
Koller, W. C., & Davenport, J. (1984) · Annals of Neurology · doi:10.1002/ana.410160414 · Cited by 26
Personal Factors Associated with Reported Benefits of Huntington Disease Family History or Genetic Testing
Williams, J. K., Erwin, C. J., Juhl, A., Mills, J. A., Brossman, B. G., & Paulsen, J. S. (2010) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2010.0065 · Cited by 26
Self-citation
Behavioural complaints in participants who underwent predictive testing for Huntington’s disease
Witjes-Ane, M.-N., Zwinderman, A. H., Tibben, A., van Ommen, G. B., & Roos, R. A. C. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.11.857 · Cited by 26
Genetic discrimination: the clinician perspective
Nedelcu, R. I., Blazer, K. R., Schwerin, B., Gambol, P. J., Mantha, P., Uman, G., & Weitzel, J. N. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00303.x · Cited by 25
Working towards ethical management of genetic testing
Parker, M. J., & Lucassen, A. (2002) · The Lancet · doi:10.1016/s0140-6736(02)11608-4 · Cited by 25
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer’s disease
Li, Y., Shaw, C. A., Sheffer, I., Sule, N., Powell, S. Z.-E., Dawson, B., Zaidi, S., Bucasas, K. L., Lupski, J. R., Wilhelmsen, K. C., et al. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.119 · Cited by 24
United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease
Benjamin, C. M., & Lashwood, A. (2000) · Clinical Genetics · doi:10.1034/j.1399-0004.2000.580107.x · Cited by 23
The Utilization and Outcome of Diagnostic, Predictive, and Prenatal Genetic Testing for Huntington Disease in Johannesburg, South Africa
Sizer, E. B., Haw, T., Wessels, T., Kromberg, J. G. R., & Krause, A. (2011) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2011.0007 · Cited by 23
Short-Term Psychological Impact of Predictive Testing for Machado-Joseph Disease: Depression and Anxiety Levels in Individuals at Risk from the Azores (Portugal)
Gonzalez, C., Lima, M. C. F., Kay, T. T., Silva, C., dos Santos, C. M. P., & Santos, J. (2004) · Public Health Genomics · doi:10.1159/000082262 · Cited by 21
The clinical utility of gene testing for Alzheimer’s disease
Atkins, E., & Panegyres, P. K. (2011) · Neurology International · doi:10.4081/ni.2011.e1 · Cited by 21
Self-citation
Interest in predictive testing for Parkinson's disease: Impact of neuroprotective therapy
Dahodwala, N. A., Connolly, J., Farmer, J. M., Stern, M. B., Jennings, D. L., & Siderowf, A. D. (2007) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2007.02.010 · Cited by 20
Genetic testing in adoption. The American Society of Human Genetics Social Issues Committee and The American College of Medical Genetics Social, Ethical, and Legal Issues Committee.
(2000) · PubMed Central · Cited by 20
Disclosure of genetic information to at‐risk relatives: recent amendments to the Privacy Act 1988 (Cwlth)
Otlowski, M. F. A. (2007) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.2007.tb01311.x · Cited by 19
Genetics and genetic counseling: Recommendations for Alzheimer’s disease, frontotemporal dementia, and Creutzfeldt-Jakob disease
Williamson, J., & LaRusse, S. (2004) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-004-0081-x · Cited by 19
Validation of the first quality-of-life measurement for patients with Huntington’s disease
Clay, E., Nicola, A. D., Dorey, J., Squitieri, F., Aballéa, S., Martino, T., Tedroff, J., Zielonka, D., Auquier, P., Verny, C., et al. (2012) · International Clinical Psychopharmacology · doi:10.1097/yic.0b013e3283534fa9 · Cited by 19
Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72
Savica, R., Adeli, A., Vemuri, P., Knopman, D. S., DeJesus‐Hernandez, M., Rademakers, R., Fields, J. A., Whitwell, J. L., Jack, C. R., Lowe, V. J., et al. (2012) · Archives of Neurology · doi:10.1001/archneurol.2012.772 · Cited by 18
Psychological Follow‐up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba
Paneque, M., Lemos, C., Escalona, K., Prieto, L., Reynaldo-Armiñán, R., Velázquez, M., Quevedo, J., Santos, N., Almaguer, L. E., Velázquez, L., et al. (2007) · Journal of Genetic Counseling · doi:10.1007/s10897-006-9083-y · Cited by 18
Genetic Counseling for Frontotemporal Dementias
Quaid, K. A. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-011-9557-8 · Cited by 17
The Use of Legal Remedies in Australia for Pursuing Allegations of Genetic Discrimination: Findings of an Empirical Study
Otlowski, M. F. A., Taylor, S. D., Barlow-Stewart, K. K., Stranger, M., & Treloar, S. A. (2007) · International Journal of Discrimination and the Law · doi:10.1177/135822910700900102 · Cited by 17
Spinocerebellar ataxia type 6: Systematic patho‐anatomical study reveals different phylogenetically defined regions of the cerebellum and neural pathways undergo different evolutions of the degenerative process
Wang, X., Wang, H., Xia, Y., Jiang, H. F., Shen, L., Shoubiao, W., Shen, R., Xu, Q., Luo, X.-G., & Tang, B. (2010) · Neuropathology · doi:10.1111/j.1440-1789.2009.01094.x · Cited by 16
Ethical considerations in presymptomatic testing for variant CJD
Duncan, R. E., Delatycki, M. B., Collins, S. J., Boyd, A., Masters, C. L., & Savulescu, J. (2005) · Journal of Medical Ethics · doi:10.1136/jme.2005.011965 · Cited by 16
What ARE Parkinson disease? Non-motor features transform conception of the shaking palsy
Jain, S., & Goldstein, D. S. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.04.013 · Cited by 15
Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes
Ishii, F., Fujita, H., Nagai, A., Ogihara, T., Kim, H., Okamoto, R., & Mino, M. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971219)73:3 · Cited by 15
Intentions to use predictive testing by those at risk for Huntington's disease: Implications for prevention
Meissen, G., & Berchek, R. L. (1988) · American Journal of Community Psychology · doi:10.1007/bf00912526 · Cited by 13
Predictive Genetic Tests in Neurodegenerative Disorders: A Methodological Approach Integrating Psychological Counseling for At-Risk Individuals and Referring Clinicians
Mariotti, C., Ferruta, A., Gellera, C., Nespolo, C., Fancellu, R., Genitrini, S., Bella, D. D., Panzeri, M., Nanetti, L., Tomasello, C., et al. (2010) · European Neurology · doi:10.1159/000315033 · Cited by 13
Neurogenetic Diagnoses: The Power of Hope and the Limits of Today’s Medicine
Browner, C. H., & Preloran, M. H. (2010) · Cited by 12
Huntington's disease: Psychiatric practice in molecular genetic prediction and diagnosis
Scourfield, J., Soldan, J., Gray, J. R., Houlihan, G. D., & Harper, P. S. (1997) · The British Journal of Psychiatry · doi:10.1192/bjp.170.2.146 · Cited by 12
Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias
Mariño, T. C., Reynaldo-Armiñán, R., Cedeño, H. J., Mesa, J. M. L., Zaldívar, Y. G., Rodríguez, R. A., Santos, M. V., Mederos, L. E. A., Paneque, M., & Velázquez‐Pérez, L. (2011) · Journal of Genetic Counseling · doi:10.1007/s10897-010-9347-4 · Cited by 12
Predictive genetic testing for Alzheimer's disease in long-term care insurance.
Rothstein, M. A. (2001) · PubMed · Cited by 9
Seeking clarity through the genetic lens: A work in progress
NANCE, M. A. (2003) · Annals of Neurology · doi:10.1002/ana.10643 · Cited by 9
Self-citation
Genetic testing in inherited ataxias
NANCE, M. A. (2003) · Seminars in Pediatric Neurology · doi:10.1016/s1071-9091(03)00031-7 · Cited by 8
Self-citation
Diagnosis of Huntington Disease: Model for a predictive testing program based on understanding the stages of psychological response
NANCE, M. A., & Ludowese, C. J. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320520125 · Cited by 8
Self-citation
Quality of Life in Prodromal HD: Qualitative Analyses of Discourse from Participants and Companions
Ready, R. E., O’Rourke, J. J. F., & Paulsen, J. S. (2011) · Neurology Research International · doi:10.1155/2011/958439 · Cited by 8
Self-citation
Genetic Testing, Alzheimer Disease, and Long-Term Care Insurance
FOGARTY, M. (1999) · Genetic Testing · doi:10.1089/gte.1999.3.133 · Cited by 8
Erratum: Technical report: ethical and policy issues in genetic testing and screening of children
(2013) · Genetics in Medicine · doi:10.1038/gim.2013.39 · Cited by 8
Neurogenetic Diagnoses: The Power of Hope, and the Limits of Today’s Medicine
Brosnan, C. (2010) · Sociology of Health & Illness · doi:10.1111/j.1467-9566.2010.01294.x · Cited by 6
A long term (ca 5 years) prospective assessment of psychological consequences of predictive testing for Huntington disease (HD)
Wiggins, S., Green, T., Adam, S., & Hayden, M. R. (1996) · PubMed · Cited by 6
Establishing a clinical trial battery for Huntington disease
Paulsen, J. S., & Long, J. D. (2012) · Nature Reviews Neurology · doi:10.1038/nrneurol.2012.67 · Cited by 4
Self-citation
Opinion enhancing quality of life in dementia
Westphal, A., Hall, W., & Chiu, E. Y.-K. (2011) · Asia-Pacific Psychiatry · doi:10.1111/j.1758-5872.2011.00139.x · Cited by 3
Resolving the impasse on predictive genetic testing in minors: will more evidence be the solution?
Robertson, S. P., & Kerruish, N. (2012) · Journal of Medical Ethics · doi:10.1136/medethics-2012-100557 · Cited by 3
Huntington's disease research and practice: reflections on the journey made and lessons learned
Goh, A., & Chiu, E. (2011) · International Psychogeriatrics · doi:10.1017/s1041610211001062 · Cited by 2
Self-citation
Disclosure of Incidental Genomic Findings Involving Children: Are We Making Progress?
Williams, J. K., Driessnack, M., Daack‐Hirsch, S., Downing, N. R., & Simon, C. M. (2013) · Personalized Medicine · doi:10.2217/pme.13.48 · Cited by 1
Self-citation
Commentary on the Symposium on Social Justice and the Health Professions: Ethical and Experiential Issues
Erwin, C. J. (2012) · Pastoral Psychology · doi:10.1007/s11089-012-0452-1 · Cited by 1
Self-citation
Untitled work
(1999) · doi:10.1002/(sici)1096-8628(19991215)88:6

Research works printed but not linked: 6

Cassidy, 2008, Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease, Alzheimer's Dementia: J. Alzheimer's Assoc., 4, 406, 10.1016/j.jalz.2008.04.007 · DOI
Cella, 2010, The Patient-Reported Outcomes Measurement Information System (PROMIS) developed and tested its first wave of adult self-reported health outcome item banks: 2005–2008, J. Clin. Epidemiol., 63, 1179, 10.1016/j.jclinepi.2010.04.011 · DOI · Paper page
Huntington, 1872, On chorea, Med. Surg. Rep. Phila., 26, 317
Patrick, 1988, What constitutes quality of life?. Concepts and dimensions, Clin. Nutr., 7, 53
Rothstein, 2007, Genetic Information Nondiscirimination Act is a first step; won’t solve the problem, CCH Labor Law Rep., 950
Wahlin, 1998, Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status, Am. J. Med. Genet., 73, 356, 10.1002/(SICI)1096-8628(19971219)73:3<356::AID-AJMG24>3.0.CO;2-H · DOI

Sorted by citations

Biomarkers of aging
Bao, H., Cao, J., Chen, M., Min, C., Chen, W., Chen, X., Chen, Y., Chen, Y., Chen, Y., Chen, Z., et al. (2023) · Science China Life Sciences · doi:10.1007/s11427-023-2305-0 · Cited by 402
Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry
Lewczuk, P., Riederer, P. F., O’Bryant, S. E., Verbeek, M. M., Dubois, B., Visser, P. J., Jellinger, K. A., Engelborghs, S., Ramírez, A., Parnetti, L., et al. (2017) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2017.1375556 · Cited by 318
Depression in neurodegenerative diseases: Common mechanisms and current treatment options
Galts, C., Bettio, L. E. B., Jewett, D. C., Yang, C. C., Brocardo, P. S., Rodrigues, A. L. S., Thacker, J. S., & Gil‐Mohapel, J. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.002 · Cited by 278
Multi-modality machine learning predicting Parkinson’s disease
Makarious, M. B., Leonard, H. L., Vitale, D., Iwaki, H., Sargent, L. J., Dadu, A., Violich, I., Hutchins, E. D., Saffo, D., Bandrés‐Ciga, S., et al. (2022) · npj Parkinson s Disease · doi:10.1038/s41531-022-00288-w · Cited by 194
Self-citation
The Patterns of Inheritance in Early-Onset Dementia
Jarmolowicz, A. I., Chen, H.-Y., & Panegyres, P. K. (2014) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/1533317514545825 · Cited by 91
Self-citation

See all 168

Authors: Paulsen, J. S., Nance, M., Kim, J.-I., Carlozzi, N. E., Panegyres, P. K., Erwin, C., Goh, A., McCusker, E., & Williams, J. K.
Affiliations: University of Iowa (US)
Park Nicollet Methodist Hospital (US)
University of Michigan (US)
The University of Texas Health Science Center at Houston (US)
The Royal Melbourne Hospital (AU)
The University of Sydney (AU)
Corresponding author: Paulsen, Jane S.
ORCID: Paulsen, Jane S.
Nance, Martha
Carlozzi, Noelle E.
Panegyres, Peter K.
Erwin, Cheryl
Goh, Anita
Williams, Janet K.
Venue: Progress in Neurobiology
Publisher: Elsevier BV
Published: 2013-11
Volume: 110
Pages: 2-28
ISSN: 0301-0082 (ISSN-L)
DOI: 10.1016/j.pneurobio.2013.08.003
PMC: PMC3833259
OpenAlex: W1980542254
Cited by: 168
References: 290
Citations by year: 2026: 8 · 2025: 16 · 2024: 18 · 2023: 10 · 2022: 18 · 2021: 21 · 2020: 10 · 2019: 14 · 2018: 9 · 2017: 14 · 2016: 8 · 2015: 11 · 2014: 10
FWCI: 0.98
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Progress in Neurobiology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Iowa Research Online (The University of Iowa) (submittedVersion)
Funders: National Institutes of Health (UL1TR000442)
U.S. Public Health Service (NGHG003330)
National Human Genome Research Institute (R01HG003330)
National Institute of Neurological Disorders and Stroke (R01NS040068, R01NS077946, NS040068, R01NS054893, NS054893, NS077946)
National Center for Advancing Translational Sciences
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Health Systems, Economic Evaluations, Quality of Life
Keywords: health-related quality of life, predictive genetic testing, early diagnosis, neurodegenerative diseases, patient-reported outcomes, Huntington's disease, Alzheimer's disease, Parkinson's disease, dementia with Lewy bodies, frontotemporal dementia, amyotrophic lateral sclerosis, prion disease, hereditary ataxia, dentatorubral-pallidoluysian atrophy, Wilson's disease, direct-to-consumer genetic testing, regret, genetic discrimination, stigmatization
MeSH terms: Brain, Genetic Testing, Humans, Quality of Life, Neurodegenerative Diseases, Early Diagnosis

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks